European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility gene.
To access publisher full text version of this article. Please click on the hyperlink in Additional Links field. Three genome-wide association studies in Europe and the USA have reported eight urinary bladder cancer (UBC) susceptibility loci. Using extended case and control series and 1000 Genomes im...
Published in: | Human Molecular Genetics |
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Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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Format: | Article in Journal/Newspaper |
Language: | English |
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Oxford University Press
2012
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Online Access: | http://hdl.handle.net/2336/228054 https://doi.org/10.1093/hmg/ddr303 |
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ftlandspitaliuni:oai:www.hirsla.lsh.is:2336/228054 |
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Open Polar |
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Hirsla - Landspítali University Hospital research archive |
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English |
topic |
Adult Aged 80 and over Chromosomes Human Pair 18 Disease Progression European Continental Ancestry Group Female Genetic Loci Genetic Predisposition to Disease Genome-Wide Association Study Humans Male Membrane Transport Proteins Middle Aged Polymorphism Single Nucleotide Reproducibility of Results Risk Factors Urinary Bladder Neoplasms Young Adult |
spellingShingle |
Adult Aged 80 and over Chromosomes Human Pair 18 Disease Progression European Continental Ancestry Group Female Genetic Loci Genetic Predisposition to Disease Genome-Wide Association Study Humans Male Membrane Transport Proteins Middle Aged Polymorphism Single Nucleotide Reproducibility of Results Risk Factors Urinary Bladder Neoplasms Young Adult Rafnar, Thorunn Vermeulen, Sita H Sulem, Patrick Thorleifsson, Gudmar Aben, Katja K Witjes, J Alfred Grotenhuis, Anne J Verhaegh, Gerald W Hulsbergen-van de Kaa, Christina A Besenbacher, Soren Gudbjartsson, Daniel Stacey, Simon N Gudmundsson, Julius Johannsdottir, Hrefna Bjarnason, Hjordis Zanon, Carlo Helgadottir, Hafdis Jonasson, Jon Gunnlaugur Tryggvadottir, Laufey Jonsson, Eirikur Geirsson, Gudmundur Nikulasson, Sigfus Petursdottir, Vigdis Bishop, D Timothy Chung-Sak, Sei Choudhury, Ananya Elliott, Faye Barrett, Jennifer H Knowles, Margaret A de Verdier, Petra J Ryk, Charlotta Lindblom, Annika Rudnai, Peter Gurzau, Eugene Koppova, Kvetoslava Vineis, Paolo Polidoro, Silvia Guarrera, Simonetta Sacerdote, Carlotta Panadero, Angeles Sanz-Velez, José I Sanchez, Manuel Valdivia, Gabriel Garcia-Prats, Maria D Hengstler, Jan G Selinski, Silvia Gerullis, Holger Ovsiannikov, Daniel Khezri, Abdolaziz Aminsharifi, Alireza European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility gene. |
topic_facet |
Adult Aged 80 and over Chromosomes Human Pair 18 Disease Progression European Continental Ancestry Group Female Genetic Loci Genetic Predisposition to Disease Genome-Wide Association Study Humans Male Membrane Transport Proteins Middle Aged Polymorphism Single Nucleotide Reproducibility of Results Risk Factors Urinary Bladder Neoplasms Young Adult |
description |
To access publisher full text version of this article. Please click on the hyperlink in Additional Links field. Three genome-wide association studies in Europe and the USA have reported eight urinary bladder cancer (UBC) susceptibility loci. Using extended case and control series and 1000 Genomes imputations of 5 340 737 single-nucleotide polymorphisms (SNPs), we searched for additional loci in the European GWAS. The discovery sample set consisted of 1631 cases and 3822 controls from the Netherlands and 603 cases and 37 781 controls from Iceland. For follow-up, we used 3790 cases and 7507 controls from 13 sample sets of European and Iranian ancestry. Based on the discovery analysis, we followed up signals in the urea transporter (UT) gene SLC14A. The strongest signal at this locus was represented by a SNP in intron 3, rs17674580, that reached genome-wide significance in the overall analysis of the discovery and follow-up groups: odds ratio = 1.17, P = 7.6 × 10(-11). SLC14A1 codes for UTs that define the Kidd blood group and are crucial for the maintenance of a constant urea concentration gradient in the renal medulla and, through this, the kidney's ability to concentrate urine. It is speculated that rs17674580, or other sequence variants in LD with it, indirectly modifies UBC risk by affecting urine production. If confirmed, this would support the 'urogenous contact hypothesis' that urine production and voiding frequency modify the risk of UBC. info:eu-repo/grantAgreement/EC/FP7/018827 info:eu-repo/grantAgreement/EC/FP7/218071 Radboud University Nijmegen Medical Centre (RUNMC) Prinses Beatrix Fonds VSB Fonds National Institute of Mental Health (NIH/NIMH) MH078075 Cancer Research UK Yorkshire Cancer Research European Union 513943 Compagnia di San Paolo-Human Genetics Foundation (HuGeF) Italian Association for Cancer Research, Italy Piedmont Region Progetti di Ricerca Sanitaria Finalizzata Flemish government Belgian province of Limburg Swedish Cancer Society Swedish Research Council Shiraz Institute for Cancer ... |
author2 |
deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland. |
format |
Article in Journal/Newspaper |
author |
Rafnar, Thorunn Vermeulen, Sita H Sulem, Patrick Thorleifsson, Gudmar Aben, Katja K Witjes, J Alfred Grotenhuis, Anne J Verhaegh, Gerald W Hulsbergen-van de Kaa, Christina A Besenbacher, Soren Gudbjartsson, Daniel Stacey, Simon N Gudmundsson, Julius Johannsdottir, Hrefna Bjarnason, Hjordis Zanon, Carlo Helgadottir, Hafdis Jonasson, Jon Gunnlaugur Tryggvadottir, Laufey Jonsson, Eirikur Geirsson, Gudmundur Nikulasson, Sigfus Petursdottir, Vigdis Bishop, D Timothy Chung-Sak, Sei Choudhury, Ananya Elliott, Faye Barrett, Jennifer H Knowles, Margaret A de Verdier, Petra J Ryk, Charlotta Lindblom, Annika Rudnai, Peter Gurzau, Eugene Koppova, Kvetoslava Vineis, Paolo Polidoro, Silvia Guarrera, Simonetta Sacerdote, Carlotta Panadero, Angeles Sanz-Velez, José I Sanchez, Manuel Valdivia, Gabriel Garcia-Prats, Maria D Hengstler, Jan G Selinski, Silvia Gerullis, Holger Ovsiannikov, Daniel Khezri, Abdolaziz Aminsharifi, Alireza |
author_facet |
Rafnar, Thorunn Vermeulen, Sita H Sulem, Patrick Thorleifsson, Gudmar Aben, Katja K Witjes, J Alfred Grotenhuis, Anne J Verhaegh, Gerald W Hulsbergen-van de Kaa, Christina A Besenbacher, Soren Gudbjartsson, Daniel Stacey, Simon N Gudmundsson, Julius Johannsdottir, Hrefna Bjarnason, Hjordis Zanon, Carlo Helgadottir, Hafdis Jonasson, Jon Gunnlaugur Tryggvadottir, Laufey Jonsson, Eirikur Geirsson, Gudmundur Nikulasson, Sigfus Petursdottir, Vigdis Bishop, D Timothy Chung-Sak, Sei Choudhury, Ananya Elliott, Faye Barrett, Jennifer H Knowles, Margaret A de Verdier, Petra J Ryk, Charlotta Lindblom, Annika Rudnai, Peter Gurzau, Eugene Koppova, Kvetoslava Vineis, Paolo Polidoro, Silvia Guarrera, Simonetta Sacerdote, Carlotta Panadero, Angeles Sanz-Velez, José I Sanchez, Manuel Valdivia, Gabriel Garcia-Prats, Maria D Hengstler, Jan G Selinski, Silvia Gerullis, Holger Ovsiannikov, Daniel Khezri, Abdolaziz Aminsharifi, Alireza |
author_sort |
Rafnar, Thorunn |
title |
European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility gene. |
title_short |
European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility gene. |
title_full |
European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility gene. |
title_fullStr |
European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility gene. |
title_full_unstemmed |
European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility gene. |
title_sort |
european genome-wide association study identifies slc14a1 as a new urinary bladder cancer susceptibility gene. |
publisher |
Oxford University Press |
publishDate |
2012 |
url |
http://hdl.handle.net/2336/228054 https://doi.org/10.1093/hmg/ddr303 |
long_lat |
ENVELOPE(-65.972,-65.972,-66.448,-66.448) |
geographic |
Kidd |
geographic_facet |
Kidd |
genre |
Iceland |
genre_facet |
Iceland |
op_relation |
info:eu-repo/grantAgreement/EC/FP7/218071 info:eu-repo/grantAgreement/EC/FP7/018827 http://dx.doi.org/10.1093/hmg/ddr303 Hum. Mol. Genet. 2011, 20(21):4268-81 1460-2083 21750109 doi:10.1093/hmg/ddr303 http://hdl.handle.net/2336/228054 Human molecular genetics |
op_rights |
openAccess |
op_doi |
https://doi.org/10.1093/hmg/ddr303 |
container_title |
Human Molecular Genetics |
container_volume |
20 |
container_issue |
21 |
container_start_page |
4268 |
op_container_end_page |
4281 |
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1766043185494097920 |
spelling |
ftlandspitaliuni:oai:www.hirsla.lsh.is:2336/228054 2023-05-15T16:52:47+02:00 European genome-wide association study identifies SLC14A1 as a new urinary bladder cancer susceptibility gene. Rafnar, Thorunn Vermeulen, Sita H Sulem, Patrick Thorleifsson, Gudmar Aben, Katja K Witjes, J Alfred Grotenhuis, Anne J Verhaegh, Gerald W Hulsbergen-van de Kaa, Christina A Besenbacher, Soren Gudbjartsson, Daniel Stacey, Simon N Gudmundsson, Julius Johannsdottir, Hrefna Bjarnason, Hjordis Zanon, Carlo Helgadottir, Hafdis Jonasson, Jon Gunnlaugur Tryggvadottir, Laufey Jonsson, Eirikur Geirsson, Gudmundur Nikulasson, Sigfus Petursdottir, Vigdis Bishop, D Timothy Chung-Sak, Sei Choudhury, Ananya Elliott, Faye Barrett, Jennifer H Knowles, Margaret A de Verdier, Petra J Ryk, Charlotta Lindblom, Annika Rudnai, Peter Gurzau, Eugene Koppova, Kvetoslava Vineis, Paolo Polidoro, Silvia Guarrera, Simonetta Sacerdote, Carlotta Panadero, Angeles Sanz-Velez, José I Sanchez, Manuel Valdivia, Gabriel Garcia-Prats, Maria D Hengstler, Jan G Selinski, Silvia Gerullis, Holger Ovsiannikov, Daniel Khezri, Abdolaziz Aminsharifi, Alireza deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland. 2012-06-08 http://hdl.handle.net/2336/228054 https://doi.org/10.1093/hmg/ddr303 en eng Oxford University Press info:eu-repo/grantAgreement/EC/FP7/218071 info:eu-repo/grantAgreement/EC/FP7/018827 http://dx.doi.org/10.1093/hmg/ddr303 Hum. Mol. Genet. 2011, 20(21):4268-81 1460-2083 21750109 doi:10.1093/hmg/ddr303 http://hdl.handle.net/2336/228054 Human molecular genetics openAccess Adult Aged 80 and over Chromosomes Human Pair 18 Disease Progression European Continental Ancestry Group Female Genetic Loci Genetic Predisposition to Disease Genome-Wide Association Study Humans Male Membrane Transport Proteins Middle Aged Polymorphism Single Nucleotide Reproducibility of Results Risk Factors Urinary Bladder Neoplasms Young Adult Article 2012 ftlandspitaliuni https://doi.org/10.1093/hmg/ddr303 2022-05-29T08:21:48Z To access publisher full text version of this article. Please click on the hyperlink in Additional Links field. Three genome-wide association studies in Europe and the USA have reported eight urinary bladder cancer (UBC) susceptibility loci. Using extended case and control series and 1000 Genomes imputations of 5 340 737 single-nucleotide polymorphisms (SNPs), we searched for additional loci in the European GWAS. The discovery sample set consisted of 1631 cases and 3822 controls from the Netherlands and 603 cases and 37 781 controls from Iceland. For follow-up, we used 3790 cases and 7507 controls from 13 sample sets of European and Iranian ancestry. Based on the discovery analysis, we followed up signals in the urea transporter (UT) gene SLC14A. The strongest signal at this locus was represented by a SNP in intron 3, rs17674580, that reached genome-wide significance in the overall analysis of the discovery and follow-up groups: odds ratio = 1.17, P = 7.6 × 10(-11). SLC14A1 codes for UTs that define the Kidd blood group and are crucial for the maintenance of a constant urea concentration gradient in the renal medulla and, through this, the kidney's ability to concentrate urine. It is speculated that rs17674580, or other sequence variants in LD with it, indirectly modifies UBC risk by affecting urine production. If confirmed, this would support the 'urogenous contact hypothesis' that urine production and voiding frequency modify the risk of UBC. info:eu-repo/grantAgreement/EC/FP7/018827 info:eu-repo/grantAgreement/EC/FP7/218071 Radboud University Nijmegen Medical Centre (RUNMC) Prinses Beatrix Fonds VSB Fonds National Institute of Mental Health (NIH/NIMH) MH078075 Cancer Research UK Yorkshire Cancer Research European Union 513943 Compagnia di San Paolo-Human Genetics Foundation (HuGeF) Italian Association for Cancer Research, Italy Piedmont Region Progetti di Ricerca Sanitaria Finalizzata Flemish government Belgian province of Limburg Swedish Cancer Society Swedish Research Council Shiraz Institute for Cancer ... Article in Journal/Newspaper Iceland Hirsla - Landspítali University Hospital research archive Kidd ENVELOPE(-65.972,-65.972,-66.448,-66.448) Human Molecular Genetics 20 21 4268 4281 |